Metylmalonsyreemi or "organic acidemias" or "methylmalonic acidaemia" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... nlm.nih.gov/pubmed/21431622?tool=bestpractice.com Methylmalonic acidaemia History Exam 1st investigation Other investigations lethargy, developmental ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... tryptophan. [ 33] Dystonia can also be seen in: methylmalonic acidaemia, propionic acidaemia, and acute leucine encephalopathy due to ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/pdf/686.pdf
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    ... ganglia lesions, and patients can have status dystonicus. • Organic acidemias with neurotoxic metabolites can cause both acute basal ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/urgent-considerations
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    ... stroke'. These conditions include glutaric aciduria 1 and methylmalonic acidaemia. Dystonia can also occur during acute crisis in ... responsive disorders, such as hydroxocobalamin for B12-responsive methylmalonic acidaemia, and biotin with thiamine for DYT-SLC19A3 (biotin- ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/urgent-considerations
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    ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ... Treating severe hyperammonemia (if present, can occur in organic acidemias) with dialysis or ammonia scavengers; severe leucinosis in ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686
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    ... aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ... aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency) Methylmalonic acidaemia Lesch-Nyhan syndrome Infantile GM2 gangliosidosis (Tay-Sachs ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/pdf/1198.pdf
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    ... devastating if unrecognized. Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1198/differentials
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    ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1027/pdf/1027.pdf
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    ... These include urea cycle disorders, glycogen storage disease, organic acidemias, primary carnitine deficiency, hereditary fructose intolerance, and fatty ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/739/pdf/739.pdf
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    ... insufficiency. • Urinary organic acids, specifically to look for organic acidemias, peroxisomal diseases, and mitochondrial diseases. • Urinary bile acids ...
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